Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9200
Gene Symbol: HACD1
HACD1 		3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 0 0 2007 2015
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 53
Gene Symbol: ACP2
ACP2 		acid phosphatase 2, lysosomal 0.780 0.346 6.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 0 0 2001 2015
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8 		acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK 		acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 0 0 2012 2017
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0